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Aliases for MYH7 Gene

Aliases for MYH7 Gene

  • Myosin, Heavy Chain 7, Cardiac Muscle, Beta 2 3
  • Myosin, Heavy Polypeptide 7, Cardiac Muscle, Beta 2 3
  • Myosin Heavy Chain, Cardiac Muscle Beta Isoform 3 4
  • Myosin Heavy Chain Slow Isoform 3 4
  • Myopathy, Distal 1 2 3
  • MyHC-Beta 3 4
  • Myhc-Slow 3 4
  • CMD1S 3 6
  • MYHCB 3 4
  • SPMD 3 6
  • SPMM 3 6
  • CMH1 3 6
  • MPD1 3 6
  • Rhabdomyosarcoma Antigen MU-RMS-40.7A 3
  • Myosin Heavy Chain 7 4
  • Myosin-7 3

External Ids for MYH7 Gene

Previous Symbols for MYH7 Gene

  • CMH1
  • MPD1

Summaries for MYH7 Gene

Entrez Gene Summary for MYH7 Gene

  • Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH7 Gene

MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta) is a Protein Coding gene. Diseases associated with MYH7 include myopathy, myosin storage and laing distal myopathy. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and ATPase activity. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH7 Gene

  • Muscle contraction

Tocris Summary for MYH7 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.

Gene Wiki entry for MYH7 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH7 Gene

Genomics for MYH7 Gene

Genomic Location for MYH7 Gene

Start:
23,412,738 bp from pter
End:
23,435,718 bp from pter
Size:
22,981 bases
Orientation:
Minus strand

Genomic View for MYH7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH7 Gene

Regulatory Elements for MYH7 Gene

Proteins for MYH7 Gene

  • Protein details for MYH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12883-MYH7_HUMAN
    Recommended name:
    Myosin-7
    Protein Accession:
    P12883
    Secondary Accessions:
    • A2TDB6
    • B6D424
    • Q14836
    • Q14837
    • Q14904
    • Q16579
    • Q2M1Y6
    • Q92679
    • Q9H1D5
    • Q9UDA2
    • Q9UMM8

    Protein attributes for MYH7 Gene

    Size:
    1935 amino acids
    Molecular mass:
    223097 Da
    Quaternary structure:
    • Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with ECM29.
    Miscellaneous:
    • The cardiac alpha isoform is a fast ATPase myosin, while the beta isoform is a slow ATPase

    Three dimensional structures from OCA and Proteopedia for MYH7 Gene

neXtProt entry for MYH7 Gene

Proteomics data for MYH7 Gene at MOPED

Post-translational modifications for MYH7 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys207, Lys213, Lys1531, and Lys1537

Other Protein References for MYH7 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH7 Gene

Domains for MYH7 Gene

Gene Families for MYH7 Gene

HGNC:
  • MYHII :Myosins / Myosin superfamily : Class II

UniProtKB/Swiss-Prot:

MYH7_HUMAN
Domain:
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils:
    • P12883
  • Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2):
    • P12883
  • Contains 1 IQ domain.:
    • P12883
  • Contains 1 myosin motor domain.:
    • P12883
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.:
    • P12883
genes like me logo Genes that share domains with MYH7: view

Function for MYH7 Gene

Molecular function for MYH7 Gene

GENATLAS Biochemistry: myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 7,cardiac muscle,beta
UniProtKB/Swiss-Prot Function: Muscle contraction

Gene Ontology (GO) - Molecular Function for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 3021460
GO:0003774 motor activity --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 17192269
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with MYH7: view

Phenotypes for MYH7 Gene

MGI mutant phenotypes for MYH7:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with MYH7: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MYH7 Gene

Localization for MYH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH7 Gene

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH7 Gene COMPARTMENTS Subcellular localization image for MYH7 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005859 muscle myosin complex TAS 3021460
genes like me logo Genes that share ontologies with MYH7: view

Pathways for MYH7 Gene

genes like me logo Genes that share pathways with MYH7: view

Gene Ontology (GO) - Biological Process for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IDA 15621050
GO:0002027 regulation of heart rate IDA 15621050
GO:0003009 skeletal muscle contraction IMP 7883988
GO:0006200 obsolete ATP catabolic process --
GO:0006936 muscle contraction TAS 15856146
genes like me logo Genes that share ontologies with MYH7: view

Compounds for MYH7 Gene

(4) Tocris Compounds for MYH7 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity [674289-55-5]
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) [1177356-70-5]
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) [856925-71-8]
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity [1576-37-0]

(1) Drugbank Compounds for MYH7 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID
target

(27) Novoseek inferred chemical compound relationships for MYH7 Gene

Compound -log(P) Hits PubMed IDs
mcat 57.4 3
actomyosin 52.8 1
arginine 27.6 7
gp 130 22.7 1
leucine 21.7 3
genes like me logo Genes that share compounds with MYH7: view

Transcripts for MYH7 Gene

mRNA/cDNA for MYH7 Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(640) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYH7 Gene

Myosin, heavy chain 7, cardiac muscle, beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH7 Gene

No ASD Table

Relevant External Links for MYH7 Gene

GeneLoc Exon Structure for
MYH7
ECgene alternative splicing isoforms for
MYH7

Expression for MYH7 Gene

mRNA expression in normal human tissues for MYH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH7 Gene

This gene is overexpressed in Heart - Left Ventricle (30.2) and Muscle - Skeletal (18.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYH7 Gene

SOURCE GeneReport for Unigene cluster for MYH7 Gene Hs.719946

mRNA Expression by UniProt/SwissProt for MYH7 Gene

P12883-MYH7_HUMAN
Tissue specificity: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level).
genes like me logo Genes that share expressions with MYH7: view

Orthologs for MYH7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH7 36
  • 97.06 (n)
  • 97 (a)
cow
(Bos Taurus)
Mammalia MYH7 36
  • 93.06 (n)
  • 97.57 (a)
MYH7 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH7 36
  • 93.13 (n)
  • 98.14 (a)
MYH7 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh7 36
  • 91.97 (n)
  • 97.52 (a)
Myh7 16
Myh7 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYH7 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH7 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myh7 36
  • 91.66 (n)
  • 97.21 (a)
chicken
(Gallus gallus)
Aves MYH7 36
  • 82.23 (n)
  • 88.68 (a)
MYH7 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 88 (a)
OneToMany
-- 37
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia myh7 36
  • 77.26 (n)
  • 89.25 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
CR450736.2 37
  • 86 (a)
ManyToMany
CU633479.5 37
  • 86 (a)
ManyToMany
CU633479.6 37
  • 86 (a)
ManyToMany
LOC567740 36
  • 78.05 (n)
  • 86.7 (a)
si:ch211-24n20.3 37
  • 86 (a)
ManyToMany
smyhc1 37
  • 85 (a)
ManyToMany
smyhc2 37
  • 86 (a)
ManyToMany
smyhc3 37
  • 86 (a)
ManyToMany
vmhc 37
  • 86 (a)
ManyToMany
vmhcl 37
  • 86 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010147 36
  • 59.38 (n)
  • 51.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mhc 36
  • 62.83 (n)
  • 56.52 (a)
Mhc 38
  • 51 (a)
Prm 38
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea myo-3 38
  • 48 (a)
hcp-1 38
  • 20 (a)
F58G4.1 38
  • 49 (a)
F45G2.2 38
  • 45 (a)
hcp-2 38
  • 21 (a)
Y11D7A.14 38
  • 28 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR068W 36
  • 48.21 (n)
  • 39.98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 36
  • 48.09 (n)
  • 42.4 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11595g 36
  • 43.52 (n)
  • 35.69 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myo2 36
  • 46.05 (n)
  • 39.12 (a)
Species with no ortholog for MYH7:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYH7 Gene

ENSEMBL:
Gene Tree for MYH7 (if available)
TreeFam:
Gene Tree for MYH7 (if available)

Paralogs for MYH7 Gene

Paralogs for MYH7 Gene

genes like me logo Genes that share paralogs with MYH7: view

Variants for MYH7 Gene

Sequence variations from dbSNP and Humsavar for MYH7 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs15808 -- 23,412,848(+) ATGTG(A/G/T)CAAAG utr-variant-3-prime
rs735711 Benign 23,429,818(-) TTCAA(A/C/G)CTGAA synonymous-codon, reference, nc-transcript-variant
rs735712 other 23,429,851(-) ACAGG(C/T)GCCAT reference, synonymous-codon, nc-transcript-variant
rs743567 -- 23,421,773(-) ACATT(A/C)AAGAA intron-variant
rs762558 -- 23,421,955(-) ATGAG(A/T)CCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYH7 Gene

Variant ID Type Subtype PubMed ID
nsv901493 CNV Loss 21882294
esv2748480 CNV Deletion 23290073
nsv470623 CNV Gain 18288195
nsv456166 CNV Gain 19166990

Relevant External Links for MYH7 Gene

HapMap Linkage Disequilibrium report
MYH7
Human Gene Mutation Database (HGMD)
MYH7
Locus Specific Mutation Databases (LSDB)
MYH7

Disorders for MYH7 Gene

(5) OMIM Diseases for MYH7 Gene (160760)

UniProtKB/Swiss-Prot

MYH7_HUMAN
  • Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:10065021, ECO:0000269 PubMed:10329202, ECO:0000269 PubMed:10521296, ECO:0000269 PubMed:10563488, ECO:0000269 PubMed:10679957, ECO:0000269 PubMed:10862102, ECO:0000269 PubMed:11113006, ECO:0000269 PubMed:11133230, ECO:0000269 PubMed:11214007, ECO:0000269 PubMed:11424919, ECO:0000269 PubMed:11733062, ECO:0000269 PubMed:11861413, ECO:0000269 PubMed:11968089, ECO:0000269 PubMed:12081993, ECO:0000269 PubMed:12566107, ECO:0000269 PubMed:12590187, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12818575, ECO:0000269 PubMed:12820698, ECO:0000269 PubMed:12951062, ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:12975413, ECO:0000269 PubMed:1417858, ECO:0000269 PubMed:15358028, ECO:0000269 PubMed:15483641, ECO:0000269 PubMed:1552912, ECO:0000269 PubMed:15563892, ECO:0000269 PubMed:15856146, ECO:0000269 PubMed:15858117, ECO:0000269 PubMed:16199542, ECO:0000269 PubMed:1638703, ECO:0000269 PubMed:16650083, ECO:0000269 PubMed:16938236, ECO:0000269 PubMed:17372140, ECO:0000269 PubMed:18403758, ECO:0000269 PubMed:1975517, ECO:0000269 PubMed:25182012, ECO:0000269 PubMed:7581410, ECO:0000269 PubMed:7731997, ECO:0000269 PubMed:7848441, ECO:0000269 PubMed:7874131, ECO:0000269 PubMed:8250038, ECO:0000269 PubMed:8254035, ECO:0000269 PubMed:8268932, ECO:0000269 PubMed:8282798, ECO:0000269 PubMed:8343162, ECO:0000269 PubMed:8435239, ECO:0000269 PubMed:8483915, ECO:0000269 PubMed:8655135, ECO:0000269 PubMed:8899546, ECO:0000269 PubMed:9544842, ECO:0000269 PubMed:9822100, ECO:0000269 PubMed:9829907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. {ECO:0000269 PubMed:14520662, ECO:0000269 PubMed:15136674, ECO:0000269 PubMed:17336526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. {ECO:0000269 PubMed:17336526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:11106718, ECO:0000269 PubMed:12379228, ECO:0000269 PubMed:15769782, ECO:0000269 PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. {ECO:0000269 PubMed:15322983, ECO:0000269 PubMed:17548557}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(33) Novoseek inferred disease relationships for MYH7 Gene

Disease -log(P) Hits PubMed IDs
hypertrophy 77.2 17
cardiac hypertrophy 75 8
death sudden cardiac 74.7 6
dilated cardiomyopathy 74.5 12
distal myopathies 72.3 7

Relevant External Links for MYH7

GeneTests
MYH7
GeneReviews
MYH7
Genetic Association Database (GAD)
MYH7
Human Genome Epidemiology (HuGE) Navigator
MYH7
genes like me logo Genes that share disorders with MYH7: view

Publications for MYH7 Gene

  1. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. (PMID: 8483915) Fananapazir L. … Epstein N.D. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 23
  2. A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. (PMID: 11214007) Havndrup O. … Christiansen M. (Scand. Cardiovasc. J. 2000) 3 4 23 49
  3. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). (PMID: 15322983) Meredith C. … Laing N.G. (Am. J. Hum. Genet. 2004) 2 3 4 23
  4. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID: 15563892) Song L. … Hui R. (Clin. Chim. Acta 2005) 3 4 23 49
  5. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PMID: 15769782) Villard E. … Komajda M. (Eur. Heart J. 2005) 3 4 23 49

Products for MYH7 Gene

Sources for MYH7 Gene

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